title: Delayed diagnosis of phenylketonuria - a case report of two siblings.
abstract: Phenylketonuria (PKU), is an autosomal recessive condition affecting the amino acid metabolism. The UK National newborn screening programme was commenced in 1969 and PKU is one among the five conditions included in the screening programme. We present the case history of two siblings of a family with a delayed diagnosis of PKU. This case history highlights such an occurrence. PKU should be considered as an important differential in the diagnosis of adult patients with learning difficulties, seizures and behavioural problems. It would be prudent to instigate plasma and urine amino/organic acid analyses in adult patients with unexplained neuropsychological manifestations.
authors.affiliation: Adult Inherited Metabolic Disease Clinic, St Luke's Hospital, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
authors.forename: Deepa
authors.initials: D
authors.lastname: Narayanan
authors.forename: Robert
authors.initials: R
authors.lastname: Barski
authors.forename: Mick J
authors.initials: MJ
authors.lastname: Henderson
authors.forename: Ahai
authors.initials: A
authors.lastname: Luvai
authors.forename: Deepak
authors.initials: D
authors.lastname: Chandrajay
authors.forename: Collette
authors.initials: C
authors.lastname: Stainforth
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Bradley
authors.forename: Hazel
authors.initials: H
authors.lastname: Rogozinski
authors.forename: Reena
authors.initials: R
authors.lastname: Sharma
mesh_terms: D000328:Adult; D057210:Delayed Diagnosis; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis* / Q000523:psychology / Q000652:urine; D035781:Siblings
keywords: Neurological disorders; inborn errors of metabolism; mass spectrometry